(used for mutation description)
(last modified December 18, 2009)
This file was created to facilitate the description of sequence variants in the SGCD gene based on a coding DNA reference sequence following the HGVS recommendations. The sequence was taken from NG_008693.1, covering SGCD transcript 1 (NM_000337.5). Transcript variant 2 (NM_172244.2) contains an alternative 3'-terminal exon 8b, ending in intron 8. GenBank contains another alternative transcript, variant 3 (NM_001128209.1), missing exon 2, encoding a 1 amino acid shorter protein.
Please note that introns are available by clicking on the exon numbers above the sequence.
(upstream sequence)
. . . g.5039
agagaggacttatctccagcatctagcactacagagcag c.-481
. . . . . . g.5099
aggctgtgtggagaatggctgaaaaatcagaattggttgtagaagcagttttctttctgg c.-421
. . . . . . g.5159
ttgtgagtatgagcccggcagacaccatgagcgctgttgcaggggagtcggcctgtgctt c.-361
. . . . . . g.5219
gacacatgtgtttcccattgatagctggagacagcccagtagctgtgagtcggtctgaca c.-301
. . . . . . g.5279
aagccatattgaagtacggagtacggtttcaaagcagtcagaaaaagaacgggaatgctg c.-241
. . . . . . g.5339
ttcaggaaattcttcaggcatgggcagggacttggctgcagttctgcagttggaaaatct c.-181
. . . . . . g.5399
gactggggcagcttctgagcgcaggctgggcctgcacacactcagcgggccgagtggcca c.-121
. . . . . . g.5459
cctccttcagagctgctcagcacgccctgggatcgcgggcggttttcatcggccggtttg c.-61
. . | 02 . . . . g.7820
tgaaacggacaagagag | agacattactgccgggagtgttgagtgaagggaccaggtggag c.-1
^ alternatively exon, missing in some transcripts
| 03 . . . . . . g.22789
ATG | ATGCCTCAGGAGCAGTACACTCACCACCGGAGCACCATGCCTGGCTCTGTGGGGCCA c.60
M | M P Q E Q Y T H H R S T M P G S V G P p.20
. . . . . . g.22849
CAGGTATACAAGGTGGGGATTTATGGCTGGCGGAAACGATGCCTGTATTTCTTTGTCCTG c.120
Q V Y K V G I Y G W R K R C L Y F F V L p.40
. . . . . . g.22909
CTCCTCATGATTTTAATACTGGTGAACTTGGCCATGACCATCTGGATTCTCAAAGTCATG c.180
L L M I L I L V N L A M T I W I L K V M p.60
. | 04 . . . . . g.186892
AACTTCACAATT | GATGGAATGGGAAACCTGAGGATCACAGAAAAAGGTCTAAAGCTAGAA c.240
N F T I | D G M G N L R I T E K G L K L E p.80
. . . . . | 05 . g.267480
GGAGACTCTGAATTCTTACAACCTCTCTACGCCAAAGAAATCCAGTCCCGACCA | GGTAAT c.300
G D S E F L Q P L Y A K E I Q S R P | G N p.100
. . . . . . g.267540
GCCCTGTACTTCAAGTCTGCCAGAAATGTTACAGTGAACATTCTCAATGACCAGACTAAA c.360
A L Y F K S A R N V T V N I L N D Q T K p.120
. . | 06 . . . . g.273213
GTGCTAACTCAGCTTATAACAG | GTCCAAAAGCCGTAGAAGCTTATGGTAAAAAATTTGAG c.420
V L T Q L I T G | P K A V E A Y G K K F E p.140
. . . . . . g.273273
GTAAAAACTGTTTCTGGAAAATTGCTCTTCTCTGCAGACAATAATGAAGTGGTAGTAGGA c.480
V K T V S G K L L F S A D N N E V V V G p.160
. . | 07 . . . . g.325745
GCTGAAAGATTACGAGTTTTAG | GAGCGGAGGGCACAGTGTTCCCTAAATCTATAGAAACA c.540
A E R L R V L G | A E G T V F P K S I E T p.180
. . . | 08 . . . g.435850
CCTAATGTCAGGGCAGACCCCTTCAAAGAACTAAG | GTTGGAGTCCCCAACCCGGTCTCTA c.600
P N V R A D P F K E L R | L E S P T R S L p.200
. . . . . . g.435910
GTGATGGAGGCCCCAAAAGGAGTGGAAATCAATGCAGAAGCTGGCAATATGGAAGCCACC c.660
V M E A P K G V E I N A E A G N M E A T p.220
. . . | 09 . . g.437482
TGCAGGACAGAGCTGAGACTGGAATCCAAAGATGGAGAG | ATTAAGTTAGATGCTGCGAAA c.720
C R T E L R L E S K D G E | I K L D A A K p.240
. . . . . . g.437542
ATCAGGCTACCTAGACTGCCTCATGGATCCTACACGCCTACAGGAACGAGGCAGAAGGTC c.780
I R L P R L P H G S Y T P T G T R Q K V p.260
. . . . . . g.437602
TTCGAGATCTGCGTCTGCGCCAATGGGAGATTATTCCTGTCTCAGGCAGGAGCTGGGTCC c.840
F E I C V C A N G R L F L S Q A G A G S p.280
. . . g.437635
ACTTGTCAGATAAACACAAGTGTCTGCCTCTGA c.873
T C Q I N T S V C L X p.290
. . . . . . g.437695
aagactatccatagtggacattgttggcagcataaaggccttttttggctttagacactg c.*60
. . . . . . g.437755
gctgccagctatttttactagaacacagaaagcctatcaaagaccttgtgtgtatgtgta c.*120
. . . . . . g.437815
cgtgtgtgtgcgtgcttgagtgtgttcgcgtgtgtgggtggatataaatatatataaata c.*180
. . . . . . g.437875
tatataaataaatatatatatcctctgtataaaatgaggtttcagtacaaaaggaaccat c.*240
. . . . . . g.437935
gggtgaccctgcgatatccactgtcattttccatcccatccccaccacctgagtgacaga c.*300
. . . . . . g.437995
aatctaaacacacatccgtcccaacattccccagaccattcagaatcacacagcgtatta c.*360
. . . . . . g.438055
aacactgacagaatcttcatctagatattcgagtagcagcatatcttctcttttagtgtc c.*420
. . . . . . g.438115
attacgagggagtgatggcgggaatctcagtcgcactcaagctctgagacctttgtatca c.*480
. . . . . . g.438175
aaaataggcatttgatttcctgttttagctttagtaaggctggctaacttccccctcttc c.*540
. . . . . . g.438235
aagctaggaactggcaatgctgtagaagtcagccgtaggaattcaaaatggctggcctac c.*600
. . . . . . g.438295
cttggctaccagacatattggggtttttgtagttgaatgaatgaggaggatgaatttcag c.*660
. . . . . . g.438355
caaattttgaactgctcacccaacttctgctatcttgctccctccaaactcacagattct c.*720
. . . . . . g.438415
cctacagtcaaattaggagctgtaaatcagcacaaaataagataacagctgttcctcagt c.*780
. . . . . . g.438475
gagctggaagctacttaatggcctgatgggcaatgaacaaacgggtgatatgtctctgtt c.*840
. . . . . . g.438535
taagggaaaaatggcttaaaagctgttctgttctcacttctgactttaaccaaaagattt c.*900
. . . . . . g.438595
caacccacaatgatcaggtcaatcaaaatccctaagagcagaactcctaccccaaaagaa c.*960
. . . . . . g.438655
gcctggaagtctaattaagagtagcataaggaacctaattatgtttaccatgtttcttgg c.*1020
. . . . . . g.438715
gattggtgggaaatgtcaaaacatgccctttatttttaaaggcattcacaaactctctga c.*1080
. . . . . . g.438775
ctttgttcttcttatatattttttcagtgccgggatattcatattcctaaagccactatt c.*1140
. . . . . . g.438835
gtgttttctctaagaagcactacatgccaccagaattgtgcactgaaagataatacaaac c.*1200
. . . . . . g.438895
tgagtgtctttatgagaatcactgtgtcccctgaggcccagcagtacctgcttccctgta c.*1260
. . . . . . g.438955
tgtggaagcagcacctcattcccgccatcagctacctctcatcaccccaccttcatcatc c.*1320
. . . . . . g.439015
atgctccagggtcaccctggccagctcttgtgctgggacaggggattacaccatctctgt c.*1380
. . . . . . g.439075
tcaaagagggggaaatgtgcctatgccttaagtcaatgcactcagcaaggagaagcacat c.*1440
. . . . . . g.439135
cttatttatcttgttacctatagtttactttgggtgattggaggggaatgacttagttat c.*1500
. . . . . . g.439195
gactggacatcttaaaagctgatagacaagccaaatggctggcagatgatgtggatttca c.*1560
. . . . . . g.439255
aagagcccagaatgaactcatcactggcttagacagtcctggatgccatttggaaagtag c.*1620
. . . . . . g.439315
tggccctgcaagcctaaatgaagtagtatttgtaggcctgggtggcatttggatttttct c.*1680
. . . . . . g.439375
tttccctcaacaaggttttactttttcttactttacaagcaagggaagttttgtgatagg c.*1740
. . . . . . g.439435
agagaaataaaagatttgatattttttgagatgacactcaagcatcaggctgagatttgc c.*1800
. . . . . . g.439495
acacatgggatgtaaaagcaagctgtgtgttgcttagtcacttacttagaagtagatggt c.*1860
. . . . . . g.439555
gggggacagcggcgtgggtcctagcctggccagtgatgctgctggcgtccagaccccaga c.*1920
. . . . . . g.439615
ctcactccaagcactcttgttcaatatctcatgcagaagagttgggctggtcactcttag c.*1980
. . . . . . g.439675
gggtgagaccccgtgattggttggtttgtagcactaaggtctaaaaaggaaaaccataaa c.*2040
. . . . . . g.439735
agacatcagattacgctggatcagtataattaatattccatagggccatgttgccagaat c.*2100
. . . . . . g.439795
ctgtatgtatcaatacagggtttttccaagccaggaaacgccctccttggctactaggag c.*2160
. . . . . . g.439855
cacctatcccatatcattcagataaacaatgatagctacaaagtcatttgtggctagata c.*2220
. . . . . . g.439915
ggttaagacaggtgattttttaaagtagactgtctttgcattttgccatctgaagttcat c.*2280
. . . . . . g.439975
taatctttagatgacaaaaaagcaaaaagttcccagaacgtttttgcttagattttgttc c.*2340
. . . . . . g.440035
taatcaccacgtgaaggaatgagattagcaccacaagtttcatgccaataaaagagactg c.*2400
. . . . . . g.440095
gtgtgatcccacatgcaaaatttaatcctaagggtagtgagatcacaaacagaataaaaa c.*2460
. . . . . . g.440155
taagagcaatcaaccatataaatcaagtacctattgggaacagacataacattcaatttt c.*2520
. . . . . . g.440215
tcatttatgctaagtgaccacagtatacaaagtaataagcaggaaatttgatatgggtta c.*2580
. . . . . . g.440275
aattatgcattttgttcagattttggaaattggtatgcattataagtttctcaatgtaca c.*2640
. . . . . . g.440335
tctttttatcccaacaccctcaaactagaatatttgtcagtggtcaagagaaaaaatttt c.*2700
. . . . . . g.440395
acctgaattcttgggggccggcggggagcttttacattaaaaatctactaacgcctactt c.*2760
. . . . . . g.440455
tttaaaaaatgagattctttctaatctttatatatgacattttctagacaatcgcacctt c.*2820
. . . . . . g.440515
tgggtatattaaacagctggtatcataacaaagaatccaaatgaaccttcaatatactag c.*2880
. . . . . . g.440575
aagttctagtaggttaatattgttcagaagatttttacaaattaaaaactgatttccaaa c.*2940
. . . . . . g.440635
tatgttcaacatttacttctatttgatatctgctcaagaagtcatagaagtcttgggaaa c.*3000
. . . . . . g.440695
ctattcgagtatcacagaggttttcaaaagcccttatggtgacatctacctaggtaaaag c.*3060
. . . . . . g.440755
cctgacatgtggctttataattgttatgttacccaagggataaacttgaactggctttga c.*3120
. . . . . . g.440815
acatcctttaggtcattttctctttggataattttcatcgcatatccagcaactatagac c.*3180
. . . . . . g.440875
caaagtttgcttaaggtttgaccctagagcagaggtgggcaaactatgacctggaaacca c.*3240
. . . . . . g.440935
aatctgacttaccaccttttcctgtagttaaagttttattgtcacatagccacatacatt c.*3300
. . . . . . g.440995
catttacatgttttctgattttacactacagcagcaggatggagtagttgtgtcagagac c.*3360
. . . . . . g.441055
tatgtatcccacaaagcatagattacttactatttagtcctttacaggcaaagtttcctc c.*3420
. . . . . . g.441115
acccctgacctagaggtttttgtggtatgcattggatatagcaggaaagaaagcacattt c.*3480
. . . . . . g.441175
ccaaacagcagggagtaagcttacatttctgtgtaggtttgggaatatagttacttggca c.*3540
. . . . . . g.441235
aagtctttcaggaaggaagcccttccttatgttacatgtggaaagcctgccttccaagac c.*3600
. . . . . . g.441295
atgtggaagtaattgatccacctgccagagaaacacaggctcagaggatgcctgggaaca c.*3660
. . . . . . g.441355
gggaggatgggattagtggaagcttaatggaaaaggaaagttatgatcctccaagaccct c.*3720
. . . . . . g.441415
taattgatagaccataccaggttctgcaggtcagcatcattgtgtaatgagagtgaagta c.*3780
. . . . . . g.441475
ggggaccctgtggttcaaccttagaatctgtttcctgtaggctctttctgctgtctatat c.*3840
. . . . . . g.441535
tcattaaagttttccacttcaccctcccatagtctagagggatgcccattccatggtcct c.*3900
. . . . . . g.441595
ccagagaatagttttgacttaacatgtctgtttagcccacatcacgtcagttatcaacac c.*3960
. . . . . . g.441655
cgccactgtgcttactgttcctacagccacaccaggcttgaagagttagtgagaccaaca c.*4020
. . . . . . g.441715
aataattggaagtattggaaaaagcaaaatacatggggacaaaaaaaatacagtgaaatt c.*4080
. . . . . . g.441775
ctttttatcaaactgatgctgtgagaaaccagatgaatgccagtttggctttatttctaa c.*4140
. . . . . . g.441835
gaatctgggtcttcattctctggtgtagaaggaatgcaaaaaactataacaacaacaaca c.*4200
. . . . . . g.441895
aaaacatattttgaaaagacatattctgacatctctgcttgtgtgtggtaaggcaggttc c.*4260
. . . . . . g.441955
ctatcagacatttatccctttggtcaagatcccttttgctcatccagggtttcatactca c.*4320
. . . . . . g.442015
atatcgcttaaaaaaaaaaaagtatcagctagggatgactctggaagtatgagtatcatg c.*4380
. . . . . . g.442075
gtggggaggaaggaattttttttaaatgtaaatgacccccatttaccagaccctaatcaa c.*4440
. . . . . . g.442135
agtcacttaagggaatccctcagccttttatttggaaacagttgaaataaactggcagca c.*4500
. . . . . . g.442195
gctagatcagagtatcttgctttattttataaaggccaaaggtagtatgaagtttggacc c.*4560
. . . . . . g.442255
aaaaaggtaaatagatccattccagcacctgatactgatttttcaaggctctatgaaagg c.*4620
. . . . . . g.442315
tcaaaaatttcattaaacaagaccagttctccctcttccccctgtcccaagaaatcttag c.*4680
. . . . . . g.442375
gcatgaaaaggataaggaaacagctcctggaatgatacatttgcatagtgccctagtagc c.*4740
. . . . . . g.442435
aggttgggaaaaagttataatataagaaacaaccttcgaaaacaggccttttatctcaaa c.*4800
. . . . . . g.442495
gataaaatgtctttcttgtggtctttcatcactatctccgtggtggaaggttcccctagt c.*4860
. . . . . . g.442555
tccaacatatttccattaaaatagtcaaagccacggcattgggatgtcagatgcctctct c.*4920
. . . . . . g.442615
ttctttgtggtaatcggaatttaaaattatacagttgcctctgaatttctcatgcacaaa c.*4980
. . . . . . g.442675
gccaaaccactgataagagataaagcagtctgaagcctgctgcttcagccagcacagcac c.*5040
. . . . . . g.442735
accacacacgctcgcactttcaaaagcaatgtgatttctatggttcttaaaagctttctt c.*5100
. . . . . . g.442795
cataagggagtccctgaaatttctcaaggcaggtttgaatggcaaagggaaaataattac c.*5160
. . . . . . g.442855
ttgtgggaggtcctccttttgagtattgttagagcatacatgtaaaagaaaataaccttt c.*5220
. . . . . . g.442915
ttggggcaactcatgctcacacatgctgttttctttggttctccccctaccttccttttg c.*5280
. . . . . . g.442975
tagatattgacagaataggaggaaatgagcatccttatttgagaaagagcaagaatgtca c.*5340
. . . . . . g.443035
tgagcccttgatgcaatagtaagtgtgatgtcatcatacagtgttaatgatgctatcaaa c.*5400
. . . . . . g.443095
tccatcaataaacagtctcaaaccttccaacaacagtgctcactgctgctcctcaacttc c.*5460
. . . . . . g.443155
agcccagcaagcagtaatatcatcacccattttgagatatgcaggtggaatagaacaaag c.*5520
. . . . . . g.443215
aaacagccactgtaatcgagaagcatgtttactgtctaaatccacctgttgcagtaggaa c.*5580
. . . . . . g.443275
gccagagtggggttccaaatgcctcattaagtatgtggacagcctcactagtaagtgagt c.*5640
. . . . . . g.443335
gaatttggcttcatcactgaacattagctaaggtcagcttaataacacaaatatgaggcc c.*5700
. . . . . . g.443395
gacttctttgcgagaagagaaaagaaaacatctgcttgatttaaaatccaccccacatgc c.*5760
. . . . . . g.443455
ctagagttgtctaatagtccctcactttccaatggcttcacatcctacttctacatttgg c.*5820
. . . . . . g.443515
ggttttttggtgaaatcagagatagctcaggatttcataaaacgagaaactccaaactgg c.*5880
. . . . . . g.443575
tctattaggttccatgggaacacttgtagccaaaggattgtctgagggcaggaagacgac c.*5940
. . . . . . g.443635
acttgtcaacaaggaagacagtgtttctttagttcccatattcatctaattcatggggtt c.*6000
. . . . . . g.443695
ctaacattttggggggccatagattcttttgacaatctgagccaatctatgaaacttctc c.*6060
. . . . . . g.443755
cccaaaaagaaccaccccacaaaatcttgcaaaacgtaagagattttcctggatctgaag c.*6120
. . . . . . g.443815
ctacccgaagacatgggaagagttgtattctattattcaattttaagaatatttattaat c.*6180
. . . . . . g.443875
attcactgagctattgctagccactgtgctaaacattttacatacattctcctatttcat c.*6240
. . . . . . g.443935
cctcaaaacaatcctttgagttgggttttaatatagttccaatattcggatgtgaaaact c.*6300
. . . . . . g.443995
gaggcttatagtggctaagaaacttgcccaaagccactacctagaaaatggcagagctgg c.*6360
. . . . . . g.444055
aatgtaggtttaactcctgaccactatgctataaagtcaccacatgtcaaactaattttc c.*6420
. . . . . . g.444115
aagttgttgggacatgtcccctactaggttttaaactagatcttccttggtagatgaagc c.*6480
. . . . . . g.444175
tatagaacttctattttccctgctttctgtagtctctcacagtgacagcatctatactaa c.*6540
. . . . . . g.444235
agtatagatacctaaggggaaaatatagaaagcctgcctgaataatagaatctagaacaa c.*6600
. . . . . . g.444295
caacaaaaatattaattttttctgtgtatgcttaggtcaagcttaaaaaaaaaaaaaaaa c.*6660
^ polyA addition site
. . . . . . g.444355
gaccggaaaatacctgggttgttagcctcacatttaggaaaaaattgtaatactcagtta c.*6720
. . . . . . g.444415
tctgtgtgtgtggctaaacaagtcagcatttctgcacacatacatctctttcctttatac c.*6780
. . . . . . g.444475
ttcccttcaaaagacaaatatcttacttttgatctttgacactatttggtcagtattctt c.*6840
. . . . . . g.444535
ctttacctttacttgtggcaaaactcaaggaagcgatcaaatagagggaagctcatttct c.*6900
. . . . . . g.444595
atcattgtctctgtttccctataagaaagaactaccagggactcactgactgcattaggc c.*6960
. . . . . . g.444655
atacaatgtcagagctgagctgaccactctggtcctgtaatgtctttggcctcacacctt c.*7020
. . . . . . g.444715
ggcagccatcattaatgggccatacccttccccaggtgcagaattctcctccccagagca c.*7080
. . . . . . g.444775
ctcaggccgttactaccaatttatctgagttggaaataagactcatttgccagttcttat c.*7140
. . . . . . g.444835
ttttaaagtggcaccctttaactttgaacctgtgtattttacactggcatcctagattca c.*7200
. . . . . . g.444895
gcaatgaggtttggtggtgtttcaactaggaagggagaaaatgagtgcatctgaagttcc c.*7260
. . . . . . g.444955
ttacagcttggtttctttggaatgctttcatcttctaagcaaagggatcagggtttgatc c.*7320
. . . . . . g.445015
tgtaagagttaaaaagacaaagtcattttgaagaattaactcagccagggatcatgcaaa c.*7380
. . . . . . g.445075
aagattagaaaccataatgcccttgttaaagccctgctgtcaacctgccttcacccagag c.*7440
. . . . . . g.445135
cttagagggccacagcagcaaagaggttggggtccatccctctctgatgtgctttttcca c.*7500
. . . . . . g.445195
caacacatatctggtcctctggcaggattgtggatagagctcctcaccatacccaaaaga c.*7560
. . . . . . g.445255
ctcagccccagtgccagtgctttcctggttcaacaacccaccacaaaaccttagtaaaag c.*7620
. . . . . . g.445315
gatgagccaaaaatgaaaaagactcgactctacagtaagtcagtcagggatttccttttt c.*7680
. . . . . . g.445375
aatggtttaagacatccaaatggcaagccaggaatagataccattaaagggtctcatagg c.*7740
. . . . . . g.445435
actaaccttaccagagccagaaatctagctctctggaagagatgcaagattctagaaaag c.*7800
. . . . . . g.445495
taaagggaagtgtcggcacatctaaatttagtgaacacaaaattaatttttatctagtct c.*7860
. . . . . . g.445555
gtgacggagggaataaagtttttcatgtatcaaccacctcccccagtcaggtttctccct c.*7920
. . . . . . g.445615
ttttgagattatgaagaagctgagacatacttcttaaggaggtcgtgttttagaaggaaa c.*7980
. . . . . . g.445675
aggcagaggctatccatcattatgctggctagatgcgcttctgaagaagccggattctga c.*8040
. . . . . . g.445735
tgttcttaaccaaaatggtgaggtcatggaagtcccatttgcttggagattttgaaaaaa c.*8100
. . . . . . g.445795
aaaaaaaaaaaaaacccattcccataaagtaattgagttcagcctttggattatttttgg c.*8160
. . . . . . g.445855
tttggtttttctctggttttgggtgtgatgtaagaagagctttttagttttgttttgaat c.*8220
. . . . . . g.445915
aacatcaatccttgcacactctatgcaaaaattttgtaagcatttcaataatgctatgaa c.*8280
. . . . . . g.445975
ttacaaggaactattttaactttattacactttctgtataaaaaatttgtatttaatatt c.*8340
. . . . . g.446033
atttcgaccacagtcttgtaaaatatattaataaaaataatgattggtaagaaggaaa c.*8398
(downstream sequence)
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